Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

Haemorrhagic stroke accounts for ∼20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here, we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 (collagen IV alpha chain 2) in a family displaying porencephaly...

Descripción completa

Detalles Bibliográficos
Autores principales: Murray, Lydia S., Lu, Yinhui, Taggart, Aislynn, Van Regemorter, Nicole, Vilain, Catheline, Abramowicz, Marc, Kadler, Karl E., Van Agtmael, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869351/
https://www.ncbi.nlm.nih.gov/pubmed/24001601
http://dx.doi.org/10.1093/hmg/ddt418

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869351/
https://www.ncbi.nlm.nih.gov/pubmed/24001601
http://dx.doi.org/10.1093/hmg/ddt418

Ejemplares similares